HemaSphere Journal’s Post

Today on February 29th, the rarest day of the year, is #RareDiseaseDay. There are around 7,000 rare diseases. Each one affects only a small number of people but together they affect the lives of 3.5 million people in the UK and an estimated 300 million people globally. Not very rare at all and yet, the majority of these conditions lack specific treatments. Cell and gene therapies are gaining momentum across a growing number of therapeutic areas, including rare diseases. By addressing the root cause rather than merely treating symptoms, these therapies hold the promise of one-time treatments or even cures. At Broken String Biosciences we envision a future where cell and gene therapies are not only transformative but also safer, more precise and effective for patients. We proudly support Genetic Alliance UK and Rare Disease Day in raising awareness about the 350 million people living with rare diseases. To learn more and find out how you can get involved, please visit: rarediseaseday.org #RareDiseaseDay #GeneTherapies

Today is #RareDiseaseDay. 300 million people worldwide suffer form a rare disease. That's more than the population of England, France, Turkey, Kenya, and Peru combined. A rare disease diagnosis can be especially devastating; often for an uncommon disease there is less known about how they can be treated, fewer physicians with know-how about them, and fewer pharmaceuticals being developed to treat them. Some time ago, I watched the excellent documentary The Gene, by Ken Burns, and based on great book of the same name by Siddartha Mukherjee. In addition to showcasing the history of genetics it also profiled patients and physicians who are fighting to cure rare diseases through scientific breakthroughs. They included Dr. Wendy Chung, a Boston physician who has become an expert on rare genetic diseases including the terrible disease KIF-1A. They also included Audrey Winkelsas, a scientist who was born with a rare genetic disease called spinal muscular atrophy, and who is now pioneering research that may one day cure SMA. So on this day, it is my hope that as a society we can be inspired by the resilience of the patients and the ingenuity of the physicians, scientists, caregivers and innovators who are working to find cures and treatments for Rare Diseases. For more information, check out https://lnkd.in/eMpW6bgv #RareDiseaseDay2024

Kazia Therapeutics Limited stands in solidarity with Rare Disease Day, a day designed to highlight the importance of support and further research for patients suffering a rare disease. DMG (diffuse midline glioma) and AT/RT (atypical teratoid/rhabdoid tumor) are two such diseases - both are aggressive forms of brain cancer for which treatment options are very limited. We hope #paxalisib will help bridge the gap in care for these brain cancer patients. Learn more about #RareDiseaseDay here: https://shorturl.at/flNP0

June is Dravet Syndrome Awareness Month! Let's raise awareness about this rare form of early-onset epilepsy characterized by difficult-to-control seizures and neurodevelopmental challenges starting in infancy. Infants with Dravet syndrome often experience prolonged seizures triggered by fever, which can progress to other seizure types like myoclonic or absence seizures. These seizures are resistant to medication and can worsen over time, accompanied by a decline in brain function. Despite initially developing normally, affected individuals may experience developmental regression, loss of acquired skills, and difficulties with movement coordination and intellectual abilities. Genomenon's research on 8041 articles confirms the strong link between Dravet syndrome and variants in the SCN1A gene, categorizing approximately 13.5 k variants. 👉 Learn more about this disease: https://lnkd.in/dFRnXFKA 🧬 Explore Genomenon's Mastermind® Genomic Intelligence Platform to learn more about SCN1A gene: https://lnkd.in/e-jHRGjk #DravetSyndromeAwarenessMonth #CureDravet #RareDiseases #GenomicResearch #DravetSyndrome #SCN1A #MastermindGIP

29 FEBRUARY is Rare Disease Day! Together, we can make a difference for the 300 million people worldwide living with a rare disease, their families, and caregivers. Let's stand together in solidarity with those affected by rare diseases. Show your support for Rare Disease Day and help raise awareness for this important cause. https://lnkd.in/e24DYsHz #genetics #genomics #precisionmedicine #genomicmedicine #raredisease #brain #neurology #neurodegeneration #lysosomalstoragedisease #neuroscience #biomarkers #therapeutics #biotechnology #innovation #research #science #sciencecommunication

Exciting Medical Innovation Update! Here at IDM Insight we are delighted to share the first release from our series “Insight: Accelerating your Drug Discovery & Development” A series focused on our innovative Pharma intelligence platform “Insight” which will provide an extensive breakdown of our platform and how it will transform the way you approach drug discovery, research and development. Our first article, "Not Just Your Average Disease Database” unveils a game-changing solution for researchers, clinicians, and pharmaceutical pros alike. Dive into the technical details of our comprehensive disease database, revolutionizing the way we organize information, identify pathways, and discover drugs. In Pharmacology, get a comprehensive overview of molecular processes to pinpoint potential drug targets and understand pathways. We go beyond data – providing actionable insights for your research pipelines! But wait, there's more! Our database isn't just data; it's the future. Coupled with AI, it's a powerhouse interpreting vast datasets, identifying patterns, and accelerating discovery. Ready to reshape your medical research? Click the image below to explore the full article and unlock the potential for innovation in your research pipelines. #IDMInsight #MedicalInnovation #DrugDiscovery #AIinMedicine

"Based upon the active hydrogen theory of reduced water, we have demonstrated that ERW (electrolyzed reduced water) scavenges ROS and protects DNA from oxidative damage in vitro (Shirahata et al., 1997)." I was watching TV this weekend and you know what I saw? Plenty of commercials for medications for this, that, and the other thing. Plenty of lists of side effects along with those medications that make it seem like they're doing more harm than good in your body for the issue they're meant for. You know what I have never seen in a commercial? Preventative care measures. It's always a drug with a long list of side effects and organ damage. We don't need the "newest and greatest" drug. We don't need to be pumping our bodies full of things that aren't even tested to see how they affect each other, or if they should even be given together. Yes, this is not tested! Preventative care is the easiest and best thing we can do, yet people don't want to hear about "diet and exercise". Kangen water is not "new water". It's mirrored after water that is already naturally in the world, already allowing people to live well into their 100s because of its high alkalinity and the benefits that alkalinity has in the body. This study is about how Electrolyzed Reduced Water can be used as disease prevention. It's as easy as taking a drink. Can't get much easier than that! Reach out if this resonates with you. Repost if you find it valuable. https://lnkd.in/gvvaqiHS (click the read more button to see the full article) #journeyforyourlife #healthiswealth #changeyourwaterchangeyourlife #enagicdistributor #enagickangenwater #ScienceIsPower #hydrogenrichwater #elecrolyzedreducedwater #ionizedwater #kangenwater #prosperwithkangen

CAR-T therapy is a promising new treatment for cancer, but its high cost has limited its availability to patients. A new study suggests that a more standardized, modular production approach could help to reduce the cost of CAR-T therapy and make it more accessible to patients. The study, which was presented at the Phacilitate Advanced Therapies Week in Miami, found that by adopting a production approach similar to that used by the car industry, CAR-T therapies could be manufactured more efficiently and at a lower cost and in turn reduce training costs and increase efficiency. ScaleReady is currently developing a platform of tools and technologies for cell culture, cell activation, gene editing, and cell processing. ScaleReadyleReady also already works with approved autologous CAR-Ts. "We're trying to help the field to standardize around a set of equipment so that it's easier to move through regulations," Josh Ludwig said. Read more with a subscription here: https://lnkd.in/et7Zah7H #celltherapy #genetherapy #advancedtherapiesweek #ATW24

50% of the solution is knowing we have a problem! Great to see the unequal access to precision testing being reviewed regionally and at an operational level. A key part of our "solutionizing" focused on these same operational and patient inequity issues - Join us free at the Summit on the 1st of may to join the discussion -shape the solutions. https://lnkd.in/eQeHtaZq